diastrophic dwarfism

x-ray features:

• short flared metaphyses with flattened epiphyses in tubular bones of extremities
• equinovarus deformity of feet -- major joints subluxed
• spine: kyphoscoliosis with gradual decrease in interpediculate distance toward caudal end of L-spine
• hands
  • "hitch-hiker's thumb" - widely abducted
  • hypoplastic first metacarpal
  • other metacarpals too broad, esp. at growing end
  • carpal bones with too many centers ossified

© 2002, C.E. Kahn, Jr.
2002-04-18